Progressive scapulohumeroperoneal distal myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive scapulohumeroperoneal distal myopathy | |
| fr | Myopathie distale scapulohuméropéronière progressive | |
| de | Progressive skapulo-humerale peroneale distale Myopathie | |
| es | Miopatía escápulo-húmero-peroneal distal progresiva | |
| it | Miopatia distale progressiva scapolo-omero-peroneale | |
| nl | Progressieve scapulohumerale peroneale distale myopathie | |
| pt | Miopatia escapulohumeral peroneal distal progressiva | |
| pl | Postępująca łopatkowo-ramienna dystalna miopatia strzałkowa | |
| cs | Progresivní skapulo-humero-peroneální distální myopatie | |
| uk | Прогресуюча лопатково-плечова дистальна міопатія | |
| zh | 进行性近端肩胛肱腓型肌病 | |
| tr | İlerleyici skapulohumeroperoneal distal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616852 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0014800 | E | validated | |
| UMLS | C4225181 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:129 | ENSG00000143632 | 102610 | 1q42.13 | actin alpha 1, skeletal muscle | 25938801[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 25938801[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25938801[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447977
- This record as JSON: /data/d/447977.json